Displaying publications 1 - 20 of 117 in total

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  1. Fatemeh, H., Watihayati, M.S., Marini, M., NurShafawati, A.R., Atif, A.B., Zabidi-Hussin, Z.A.M.H., et al.
    MyJurnal
    Spinal Muscular Atrophy (SMA) is a heredity neuromuscular disorder and is one of the most common genetic causes of childhood fatality. SMA is classified into three groups based on age of onset and achieved motor milestone. Survival Motor Neuron (SMN) gene has been identified as the responsible gene for SMA. From August 2003 until Feb 2007 we have received 93 samples for SMN1 gene deletion analysis from various hospitals in Malaysia. All the patients except for 3 patients were Malaysian (71 Malays, 5 Indians, 9 Chinese and 5 patients are mixed ethnicity). DNA were extracted from blood samples using DNA extraction kit and subjected to SMN/ gene deletion analysis by PCR-RE. Forty nine out of 93 samples (20 type I, 21 type II, and 8 type III) were found to have homozygous deletion of at least exon 7 of the SMN1 gene. Twelve patients (7 type I, 4 type II, 1 type III) showed the presence of the SMN1 gene and the rest were excluded as they did not fulfill the criteria of International SMA Consortium. Deletion analysis of exon 7 of the SMN gene can be an alternative to the existing diagnostic modalities of SMA.
  2. Foong Eva, Hasliani Hassan, Azizah Othman, Ilunihayati Ibrahim, Nazihah Mohd Yunus, Siti Mariam Ismail, et al.
    MyJurnal
    Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.

    Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.

    Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.

    Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.
  3. HanafI S, Abdullah WZ, Adnan RA, Bahar R, Johan MF, Azman NF, et al.
    MyJurnal
    HbE/β-thalassemia is the most common severe form of thalassemia particularly in SEA region including Malaysia and globally, it comprised of a significant severe form of β-thalassemia disorder. It has various clinical manifestations ranging from very mild anemia to severe manifestation similar to beta thalassemia major. Many different syndromes are observed in HbE/β-thalassemia. Several genetic modifiers have been reported to play important role in contributing to phenotypic variability. The true reasons underlying this phenotypic variability remain unknown. The most reliable predictive factor of the disease phenotype is the nature of the beta globin gene mutation itself. However, the degree of severity is also believed to be affected by other genetic modifiers. For instance, high HbF level ameliorates the clinical severity of β thalassemia patients. Therefore, identification of these genetic modifiers is very important. The association of severe clinical manifestation and the specific β-globin gene mutation has been known. But the wide scope and other potential predictors have been only recently appreciated. This review therefore aimed to reveal the potential genetic modifiers of HbE/βthalassemia patients based on the previous reported studies. A better understanding on the mechanisms underlying the variety of phenotypes of this disease may lead to the direction for a better future management plans. This also promotes “personalized medicine” in patient care.
  4. Lau, Doris Sie Chong, Juriza Ismail, Zarina Latiff
    MyJurnal
    Objective: The present study examined the sensitivity and specificity of M-CHAT-Malay version [M-CHAT(MV)] to discriminate ASD from other developmental-behavioural disorders. Methods: This study was carried out in the Child Development Centre at a tertiary referral centre. Parents of 130 children aged 18–60 months, referred for developmental-behavioural disorders were asked to complete M-CHAT(MV). A child was considered to have ASD ifthey failed any 3 of the 23 total items or 2 or more of the 6 critical items. Results: Looking at the total items, M-CHAT(MV) has a good sensitivity (88.9%) to differentiate between ASD and other developmental-behavioural disorders, although specificity was only 47.8%. However, the critical items only has sensitivity of 71.4% and specificity of 77.6%. Sensitivity for children aged 49–60 months old was lower (80.0%) compared to those in the younger age group (100.0% and 90.3% for those aged 25-36 months and 37–48 months respectively). Based on the ROC curve, the optimal criteria to detect ASD was failing 1 out of 6 critical items or 3 out of 23 total items. Conclusion: M-CHAT(MV) is a good screening tool in differentiating ASD from other developmental-behavioural disorders although the critical items’ criteria may need to be lowered to improve its sensitivity in selected cohorts.
  5. Tan, Ciang Sang, Haiza Hani Hamidon, Zainah Shaikh Hedra
    MyJurnal
    Background: A 9 year old boy presented with history of persistent headache and recurrent vomiting for 1 month post dental extraction. CT brain was performed for the possibility of space occupying lesion but it was normal. Subsequently, he was treated as migraine after exclusion of meningitis and intracranial lesion. Unfortunately, he developed 3rd, 4th and 6th cranial nerve palsy two weeks later. Repeated CT brain showed subtle finding and inconclusive. MRI brain performed at the time showed features suggestive of basal skull osteomyelitis with congestion of right orbit and optic nerve swelling. Case was referred to Paediatric Neurologist and he was diagnosed to have cranial nerve palsy secondary to basal skull osteomyelitis, post dental extraction.

    Conclusion: Dental procedure is common among children, however basal skull osteomyelitis with cranial nerve palsy is a rare complication. Adequate treatment of dental infection post dental procedure is important to prevent this complication.
  6. Norlijah, O., Abu, M.N., Mohd Nor, A., Yip, C.W.
    MyJurnal
    Endobronchial tuberculosis is an uncommon manifestation involving the tracheobronchial tree. The clinical presentation is typically non-specific. We report this unusual complication of pulmonary tuberculosis initially diagnosed as foreign body in a 16-month-old child.
  7. Dayang Zuraini Sahadan, Ee Wei Ng, Yinn Khurn Ooi
    MyJurnal
    The causes of neonatal hypoxemia are usually either pulmonary or cardiac pathologies. We report a case of a 2-month-old boy with oxygen dependency since birth. He would desaturate down to 88-90% whenever supplemental oxygen was weaned off. Initial screening echocardiograms described only a small atrial septal defect, thus lung disease was thought to be the aetiology. Eventually, a detailed echocardiogram and CT angiography revealed anomalous right superior vena cava (RSVC) draining into the left atrium (LA). Echocardiography with bubble study injected via the upper extremities showed brisk filling of “bubbles” in the left heart, confirming fixed right-to-left shunting. Anomalous RSVC drainage into the LA is an extremely rare form of anomalous systemic venous drainage whereby unexplained hypoxemia is present and is sometimes the only clinical manifestation. Surgical correction of this anomaly is indicated to prevent complications of cyanosis and risk of systemic embolization. The surgery generally carries low risk and is associated with good long-term prognosis.
  8. Wardah Yusof
    MyJurnal
    Application of genome editing have garnered a lot of attention in the scientific world. Its ability to make permanent and precise modification or ‘edits’ in the genomic DNA sequences have open up the possibility of probing the functionality of genes and correcting abnormal genes to treat genetic diseases. The CRISPR/Cas9 which was adapted from Type II bacterial adaptive immune system is the most applied genome editing system due to the ease and efficiency of the system in customising the nucleases needed in editing the targeted sequences. However, the downside of this system is the high frequency of ‘off-target’ editing caused by the nature of the Cas9 protein that can tolerate mismatches between customised nucleases; sgRNA, and the genomic sequences. Despite the set-back, researchers continue applying CRISPR/Cas9 system to edit the genome by minimising the frequency of ‘off-target’ edits. Application of the improved system had successfully produced numerous results in the initial treatment of genetic diseases such as cystic fibrosis, β-thalassemia, and Duchenne Muscular Dystrophy. The fast-paced development and improvement made to this system will continue to be utilised by the researchers around the world for the treatment of human diseases, a progress much needed and awaited.
  9. Wan Faiziah Wan Abdul Rahman
    MyJurnal
    Epigenetics is the study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence. It is a change in phenotype without changing in genotype which in turn affects how cellsread the genes. The epigenetic change is a regular occurrence but can also be influenced by several factors including age, environment, lifestyle, and disease state. It may have damaging effects that result in diseases like cancer. At least three systems including DNA methylation, histone modification and RNA-associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of diseases including in childhood solid cancer such as Ewing sarcoma, neuroblastoma, Wilms tumours, brain tumours and rhabdomyosarcoma. A better understanding of epigenetic changes in childhood cancers can guide towards future therapy and diagnosis.
  10. Lim, C.B., Munirah, A., Alias, M., Nandy, A.K., Thamby Dorai, C.R.
    MyJurnal
    Ascaris lumbricoides infection usually results in mild gastrointestinal symptoms. However, heavy worm load infections can cause major complications. In one-third of the latter cases, the worms enter the bile duct causing cholangitis, biliary colic and acute pancreatitis. We describe an eleven-year-old Indian boy who presented with high grade fever, vomiting of worms, jaundice and right hypochondria! pain. Examination revealed an ill, malnourished and jaundiced child. His abdomen was tender with positive Murphy's sign and hepatomegaly. Urgent ultrasound showed hepatomegaly with dilated intrahepatic and common bile ducts (CBD). There were tubular echogenic filling defects with central sonolucency along the long axis of the CBD. He was fasted, started on intravenous fluids and broad spectrum antibiotics. As there was no improvement after 24 hours, endoscopic retrograde cholangio-pancreaticography (ERCP) was performed: it showed worms in the CBD. A stent was inserted to decompress the bile ducts and to ensure biliary drainage. The patient improved, the fever settled, jaundice resolved, serum amylase and transaminase levels normalised. It was planned to remove the stent at a later date.
  11. Cheung, Tian Pei, Rostenberghe, Hans Van, Narazah Mohd Yusoff, Noraida Ramli, Nor Rosidah Ibrahim, Nishio, Hisahide, et al.
    MyJurnal
    Background: The low yield and quality of buccal-derived genomic DNA have reduced its applicability in various genetic research. The aim of this study was to assess the quantity, purity and genotyping efficiency of genomic DNA isolated from neonatal buccal swabs. Methods: Paired buccal swabs and whole blood samples were collected from 60 neonates with the mean age 5 days (SD=1.57). The genomic DNA quantity and purity were measured by using Infinite® 200 PRO NanoQuant reader and agarose gel electrophoresis. High-resolution melting (HRM) analysis was used to analyse the sequence variants present in uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1 c.211G>A) and nuclear receptor subfamily 1, group I, member 3 (NR1I3 IVS8+116T>G) genes. Results: Buccal swabs provided lower mean genomic DNA concentration (18.78 ± 8.39 ng/μl versus 40.02 ± 13.03 ng/μl), yield (2.63 ± 1.17 μgversus8.00 ± 2.61 μg). The purity of buccal samples however were inconsistent with 16 samples (26.7%) having A260/280 ratios below 1.8 which indicated protein contamination. Genomic DNA purity for all blood samples were within the ideal range with average absorbance ratios of 1.8−2.0. However, all buccal genomic DNA demonstrated 100% genotype call rates for all variants. A complete genotype concordance was also observed between paired genomic DNA samples. Conclusion: Despite related to a reduced quantity and purity, neonatal buccal genomic DNA could generate reliable HRM genotyping results. Therefore, buccal swab collection is a promising alternative to the invasive blood sampling to provide genomic DNA for genetic analysis involving paediatric population.
  12. Irfan Mohamad, Mohamad Muizz Mohamad, Wan Emelda Wan Mohamad, Suhaimi Yusuf
    MyJurnal
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  13. Lim, Min Jim, Tengku Aszraf Tengku Shaeran, Soon, Eu Chong
    MyJurnal
    Airway managements in maxillofacial fracture patients are complex and crucial. Trauma to the maxillofacial region may cause hemorrhage, swelling which may lead to pulmonary aspiration and airway obstruction. Airway managements in maxillofacial fracture patients are complex and crucial. Besides being uncooperative, presence of fractures and soft tissue injuries posed challenges in managing pediatric patient who already have smaller airway opening. This condition is an important red flag which required extra caution from the treating clinicians. A 6-year-old boy was involved in a road traffic accident and presented with profuse bleeding from the oral cavity and nostrils. Physical examination showed oozing of blood with step deformity of the midpalate. Multiple attempts in intubation resulted in failure before succeeding with the aid of suction devices. After intubation was done, intraoral bleeding was successfully managed with transpalatal wiring and nasal packing. The patient was ventilated in the intensive care unit and was extubated two days later. He was discharged well from hospital after one week of admission. Airway management is a rush against time, particularly in a pediatric patient suffering from a palatal fracture. The need for helping hands for suction and child control must be emphasized to ensure the patient’s survival.
  14. Singh, H.
    MyJurnal
    Clubfoot is associated with leg length inequality, with the affected leg being shorter as a consequence of the hypoplasia. Early treatment of a minimally hypoplastic clubfoot usually allows catchup growth and both legs equalise in length after a few years. Late treatment however is associated with a shortening of the affected foot. A case is described where late treatment of a severe clubfoot is assocated with lengthening of the affected leg.
  15. Singh, H.
    MyJurnal
    It is very rare indeed in the practice of children's orthopaedics today in Malaysia that the natural history of long bone osteomyelitis is seen. A case is presented where a shoulder abscess in a 3-year-old child developed into septic arthritis of the shoulder and subsequently chronic osteomyelitis of the adjacent humerus. The parents refused active surgical debridement and sequestrectomies. Three years later the child had regenerated a new humerus over the sequestra. Radiographs are presented illustrating the entire natural history of osteomyelitis with the regeneration of a new humerus.
  16. Jahanbakhsh J, Salmah WM, Abubakar NT, Samsudin H
    MyJurnal
    Lymphangiomas are hamartomatous congenital malformations of the lymphatic system that usually involve subcutaneous tissues of cervico-facial region. Rarely, it can be found in subcutaneous tissue of proximal extremities, the buttocks and the trunk. Magnetic Resonance Imaging (MRI) is the best modality to assess the tumor specification and extension. We report a case of lymphangioma at a rare site with its radiological features and patient responsed to the sclerosant therapy.
  17. Chen, Seong Ting, Soo, Kah Leng, Azriani Ab Rahman, Van Rostenberghe, Hans, Sakinah Harith
    MyJurnal
    Objectives: This study was conducted with two objectives, i) to assess the prevalence of malnutrition among children and adolescents with learning disability (LD) in Kelantan, a rural state located at the north-eastern region of Peninsular Malaysia; and ii) to examine the associations of participants’ socioeconomic and feeding characteristics with their body mass index (BMI).

    Methods: A total of 271 children and adolescents with LD aged between 4 to 19 years old were recruited from 32 community-based rehabilitation centres using purposive sampling method. Standing height and body weight of participants were measured. Socioeconomic and feeding information were obtained from their primary caregivers through interviews using structured questionnaire. Multiple linear regression analyses were performed to examine the associations of socioeconomic and feeding characteristics with participants’ BMI.

    Results: The prevalence of underweight among children and adolescents with LD was 22.5%; while another 22.1% of them were overweight and obese. Multiple linear regression models showed that being Down’s syndrome (Adjusted regression coefficient β=2.63, p
  18. Alam Sher Malik, Rukhsana Hussain Malik
    MyJurnal
    The medical education should be tailored to deal with the diseases the physician is most likely to see.' With expectations that all the graduates from Malaysian Medical Schools should be able to serve anywhere in the country, the need for a national curriculum is self-evident. It may be argued that the public must have confidence in the competence of the practitioners they depend upon irrespective of the school from which they had graduated. In smaller countries in which health needs are uniform the graduates of any school should have been trained to meet those needs. In larger countries and those with geographic diversities and distances (e.g. Malaysia), the curriculum should cover the commonly encountered diverse ailments. If not dealt with care, we may end up with huge load of ever expanding, unmanageable curriculum.
  19. Muhammad Yusoff Mohd Ramdzan, Jamil Aiman Mohd Baharuddin, Nordiyana Azmi, Noraida Ramli, Nor Rosidah Ibrahim, Rostenberghe, Hans Van
    MyJurnal
    Neonatal mastitis and abscess are rare and most often unilateral. Neonatal breast massage for physiological breast hypertrophy is suspected to be a predisposing factor in the case reported here: a 14-day-old neonate with bilateral neonatal breast abscess, treated effectively with intravenous cloxacillin and surgical aspiration.
  20. Hassan, H., Quah, B.S., Haider, D., Rostenberghe, H.V.
    MyJurnal
    The aim of the study was to determine the effect of pro-phylactic low dose dopamine infusion on renal function in ventilated premature newborns with respiratory dis-tress syndrome (RDS). A prospective, randomised con-trolled trial was conducted, using low dose dopamine [2.5μg/kg/min] in the treatment of preterm babies with gestational age 28-36 weeks requiring mechanical ventilation for RDS within six hours of age. Thirty-six babies were enrolled and 19 babies were randomly assigned to the treatment groups. The renal function after 72 hours for the treatment and control groups respectively were: urine output (ml/kg/hour) 3.3±0.4 and 3.0±0.3 [p=0.55], urine specific gravity 1006±0.6 and 1006±1.0 [p=0.68], fractional excretion of sodium 4.1±0.8 and 2.6±0.4 [p=0.10], fractional excretion of potassium 37.44 ± 5.6 and 16.49 ± 2.2 [p=0.001], glomerular filtration rate (ml/day/1.72m2) 16±2.6 and 25.6±4.5 [p=0.06]. There were no significant differ-ences in the frequency of hypotension, oliguria and sep-sis between the two groups. There were seven deaths (36.8%) in the treatment group (six due to sepsis and one due to prematurity) and two deaths (11.8%) in the control group (both due to sepsis) (p = 0.13). In con-clusion prophylactic low-dose dopamine infusion did not improve the renal function in ventilated premature babies with respiratory distress syndrome. The results of this study do not support the routine use of prophylac-tic low-dose dopamine in ventilated preterm babies with respiratory distress syndrome.
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